A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750361



Internal ID10331331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1737777..1739389hg38UCSC Ensembl
Outerchr16:1787778..1789390hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381613
hg191613
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673930, essv6971327, essv6949572, essv6953748, essv6857955, essv6839086, essv6800714, essv6960080, essv6953749, essv6763680
SamplesSSM083, SSM024, SSM087, SSM028, SSM062, SSM026, SSM031, SSM072, SSM025
Known GenesMAPK8IP3
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2750361
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer